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  • 1
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Complex I deficiency ; Polyvitamin therapy ; Dichloroacetate therapy ; Polyneuropathy ; Thiamine administration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A therapeutic trial with polyvitamins and dichloroacetate (DCA) in combination with thiamine in a 13-year-old girl with complex I deficiency is reported. The polyvitamin therapy included thiamine, riboflavin, ascorbate, coenzyme Q 10 and carnitine. This therapeutic regine was used over a period of 17 months without any effect. Although DCA lowered the lactate concentration in blood and CNS — measured by magnetic resonance spectroscopy — no clinical benefit was achieved. After 20 weeks of DCA therapy a distal polyneuropathy with areflexia developed although 100 mg thiamine daily as comedication was given from the beginning of DCA therapy. Nerve conduction velocity of the peroneal nerve was not detectable, sensible evoked potentials of the tibialis posterious nerve were normal. This side-effect resolved completely within 6 months after omission of DCA. Our observation suggests a direct toxic effect of DCA only on the peripheral nervous system in our patient since several cerebral MRI and magnetic resonance spectroscopy studies showed no abnormalities. Conclusion DCA lowers the lactate concentration in children with complex I deficiency of the respiratory chain in a dose of 100 mg/kg body weight without clinical benefit. Reversible peripheral polyneuropathy may develop under DCA therapy despite thiamine medication.
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Non-PKU HPA ; intellectual and neurological outcome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The intellectual, neurological, and neuropsychological outcome of patients with non-phenylketonuric-hyperphenylalaninaemia (PKU-HPA) (serum phenylalanine levels under free diet 〈 600 μmol/l) has not been systematically studied so far. We therefore tested 28 patients (mean age = 21.8, SD = 4.2 years) for IQ (WAIS-R/WISC-R), school performance, job career, clinical neurological examination, fine motor performance (motor performance task), and selective and sustained attention (stroop task, Dot Pattern Exercise from the Sonneville visual attention task). In addition, cranial MRI (1.5 T unit) was obtained in 10 of these patients. Clinical-neurological examination revealed no significant abnormalities in the non-PKU-HPA patients. They also had a normal IQ (mean = 101.9, SD = 13.6). Compared to their healthy siblings, they attended a normal school and had a normal job career. The motor performance task revealed no deficits in fine motor abilities. The patients performed normally in the stroop task and the dot pattern exercise. Their MRIs were normal. Our results indicate that patients with non-PKU-HPA are not at risk for developing intellectual, neurological, and neuropsychological impairment, as described for patients with treated mild or classical phenylketonuria. From this point of view a dietary treatment is not necessary in patients with hyperphenylalaninaemia.
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  • 6
    ISSN: 1432-1076
    Keywords: Key words Arg506 to Gln ; t-PA ; u-PA ; PAI 1 ; D-Dimer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Resistance to activated protein C (APCR), in the majority of cases due to the arginine506 (Arg506) to glutamine (Gln) mutation in the factor V gene, has emerged as the most important hereditary cause of venous thrombo-embolism. To determine to what extent this relatively common gene mutation influences the fibrinolytic system we investigated a population of APC resistant children (n = 65) in comparison with a control group␣of sex- and age-matched healthy children (n = 100). Compared to the controls, plasma levels of tissue-type plasminogen activator (t-PA), urokinase-type plasminogen activator (u-PA) and plasminogen activator inhibitor (PAI) 1 antigen, D-Dimer and enhanced thrombin generation were significantly (P 〈 0.0001) increased in children with the common factor V mutation. No difference was found between symptomatic and non-symptomatic children. Whether high concentrations of t-PA, u-PA and PA1 antigen can predict future vascular occlusion in children with APCR requires a more extensive multicentre study. Conclusion Our data indicate that hypercoagulability in children with the Arg506 to Gln mutation in the factor V gene is mainly attributed to the genetic aetiology of the disease.
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  • 7
    ISSN: 1432-1076
    Keywords: Key words Childhood sinus thrombosis ; Factor V:Q506 ; Protein C ; Lipoprotein (a) ; Antiphospholipid syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over a 3 year period the R506Q mutation in the factor V (FV) FV:Q506 gene, FV, factor XII (FXII), prothrombin, protein C, protein S, antithrombin, heparin cofactor II, anticardiolipin antibodies and lipoprotein (a) (Lp(a)) were measured in 32 infants and children with sinus thrombosis. Heterozygous FV:Q506 (n= 5), homozygous FV:Q506 (n= 2), homozygous FXII deficiency (n= 1), protein C deficiency type I (n= 5), protein C deficiency type II (n=1), antithrombin deficiency type I (n = 1) increased Lp (a) (n=5), activated protein C-resistance without mutation in the FV gene (n= 2), and increased anticardiolipin IgG antibodies (n= 2) were diagnosed in the children investigated. In a further two patients we found combinations of increased Lp(a) with moderate hyperhomocystinaemia and heterozygous plasminogen deficiency with heterozygous FXII deficiency. In addition, increased anticardiolipin IgG antibodies were found in combination with heterozygous FV:Q506 (n= 1) and protein C type I deficiency (n= 2) respectively. Out of 32 patients with venous sinus thrombosis, 3 showed additional peripheral venous vascular occlusion. Contributing factors were present in 31 out of 32 patients investigated. Family members of 10 affected children had suffered from venous thrombo-embolism prior to the study. Conclusion Our data suggest that additional contributing factors may promote manifestation of cerebral venous sinus thrombosis in infants and children with an inherited prothrombotic state. Further prospective studies are required to evaluate their potential role as “triggering” agents.
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  • 8
    ISSN: 1432-1076
    Keywords: Key words Childhood venous thrombosis ; FV G1691A mutation ; Protein C ; Protein S ; Antithrombin ; Lipoprotein (a)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To evaluate the role of multiple established and potential causes of childhood thrombophilia, 285 children with a history of thrombosis aged neonate to 18 years (first thrombotic onset) were investigated and compared with 185 healthy peers. APC- resistance (FV:Q506), protein C, protein S, antithrombin, heparin cofactor II (HCII), histidine-rich glycoprotein (HRGP), and prothrombin (F.II), factor XII (F.XII), plasminogen, homocysteine and lipoprotein (a) (Lp(a)) were investigated. In 59% of patients investigated one thrombotic defect was diagnosed, 19.6% showed two thrombotic risk factors, while in 21.4% of children investigated no risk factor could be identified. Single defects comprised established causes of inherited thrombophilia: FV:Q506 (homozygous n = 10, heterozygous n = 69), protein C (homozygous n = 1; heterozygous n = 31), heterozygous type I deficiency states of protein S (n = 7), antithrombin (n = 7) and homocystinuria (n = 6); potentially inherited clotting abnormalities which may be associated with thrombophilia: F.XII (n = 3), plasminogen (n = 2), HCII (n = 1), increased HRGP (n = 4); new candidate risk factors for thrombophilia: elevated plasma levels of Lp(a) (n = 26), F.II (n = 1). Heterozygous FV:Q506 was found in combination with heterozygous type I deficiency states of protein C (n = 2), protein S (n = 13), antithrombin (n = 8) and HCII (n = 1), increased Lp(a) (n = 13), and once each with elevated levels of F.II, moderate hyperhomocysteinemia, fibrinogen concentrations 〉700 mg/dl and increased HRGP. In addition to the association with FV:Q506, heterozygous protein C type I deficiency was combined with deficiencies of protein S (n = 2), antithrombin (n = 1), and increased Lp(a) (n = 3). One patient showed protein C deficiency along with familially increased von Willebrand factor 〉250%. Besides coexistence with FV:Q506 and protein C deficiency, protein S deficiency was combined with decreased F.XII and increased Lp(a) in one subject each. Furthermore, we found combinations of antithrombin deficiency/elevated Lp(a), hyperhomocysteinemia/Lp(a), deficiency of HCII/plasminogen, and plasminogen deficiency along with increased Lp(a) each in one. Increased prothrombin levels were associated with fibrinogen concentrations 〉700 mg/dl and with HCII deficiency in one child each. Carrier frequencies of single and combined defects were significantly higher in patients compared with the controls. Conclusion In conclusion, data of this multicentre evaluation indicate that paediatric thromboembolism should be viewed as a multifactorial disorder.
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  • 9
    ISSN: 1432-1076
    Keywords: Key words MTHFR C677T ; Homocysteine ; F V G1691A ; Prothrombin G20210A ; Childhood venous thrombosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Controlled data on the association of MTHFR genotypes, hyperhomocysteinaemia and their interaction with factor V G1691A with childhood thrombosis are not yet available. Therefore we conducted a case-control study comparing 141 childhood patients with venous thrombosis with 345 healthy controls. The MTHFR C677T genotypes, FV G1691A and prothrombin G20210A were evaluated; in addition, fasting homocysteine concentrations were measured in a subgroup of 60 children and 80 healthy controls. 10.4% of the healthy control population showed the MTHFR TT genotype, 34.2% the CT genotype and 55.4% the CC variant. MTHFR genotypes account for fasting homocysteine concentrations in healthy controls (CC: 5.5 μmol/l (4–7.2); CT: 7 μmol/l (3.9–9.8); TT: 12.1 μmol/l (7.7–13.3)) with an upper age-specific 95th percentile of 8.3 μmol/l. The following frequencies (patients versus controls), odds ratios (OR) and 95% confidence intervals (CI) were found for single defects: MTHFR 677TT genotype (10.6% vs. 10.4%; OR/CI: 1.02/0.54–1.93; P= 0.99) and CT genotype (43.8% vs. 34.2%; OR/CI: 2.12/1.42–3.16; P= 0.0000). A combination of FV G1691A mutation and MTHFR 677CT genotype was found in 9.9% of patients and in 2.9% of the controls (OR/CI: 3.8/1.64–8.75; P= 0.027). Fasting homocysteine median (range) concentrations in the patient group were significantly higher than in the controls (7 μmol/l (3–23) vs. 5.5 μmol/l (3–8.4); P= 0.0004), and homocysteine concentrations 〉8.3 μmol/l were found in 40% of patients vs. 2.5% of the controls (OR/CI: 22/2.64–183; P= 0.0003). Conclusion Data of this childhood case-control study suggest that mildly elevated fasting homocysteine concentrations 〉8.3 μmol/l and the CT genotype of the MTHFR C677T variant are significant risk factors for venous vascular occlusion in children.
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  • 10
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Selective ; sustained attention ; Impaired frontal lobe functions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Twenty normally intelligent children with early treated phenylketonuria (PKU) (IQ: mean=101.4, SD=10.0; age: mean=10 years 11 months, SD=1.3 years) and 20 healthy controls, matched for age, sex and IQ, were assessed for their selective (Stroop Task) and sustained attention (Test-d-2). Using positron emission tomography an activation of the frontal lobe during the Stroop task had previously been demonstrated. In addition to the Stroop Task and the Test-d-2, a short-term memory test as a “non-frontal-lobe-function-task” was administered to all subjects. Group comparisons demonstrated that PKU children had specific deficits in selective and sustained attention, which were significantly correlated with the concurrent serum phenylalanine concentration. Conclusion The results give evidence that even dietary treated children with PKU were suffering from impaired attentional control mechanisms in spite of a normal IQ. The deficits might be the result of impaired frontal lobe functions.
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